Buitrago Juliana, Santa Sandra Viviana
Universidad Tecnológica de Pereira, Colombia.
Biomedica. 2009 Sep;29(3):339-47.
The porphyrias are inherited disorders of the heme biosynthetic pathway. They are relatively rare and often misdiagnosed; however, acute episodes can be curtailed by early administration of heme arginate. Acute intermittent porphyria is the commonest of acute forms of porphyria. Here, a case is presented of a 23-year-old male with acute intermittent porphyria who came to the emergency clinic with an unexplained abdominal pain. In addition, he exhibited spontaneous hemothorax (two liters of blood accumulated in the chest) as an unusual manifestation of the disease. The most relevant aspects of acute intermittent porphyria are discussed, along with its epidemiology, diagnosis, clinical presentation and treatment. Complexities and diagnostic requirements in making a diagnosis of porphyria are described.
卟啉病是血红素生物合成途径的遗传性疾病。它们相对罕见,且常被误诊;然而,早期给予精氨酸血红素可缩短急性发作期。急性间歇性卟啉病是最常见的急性卟啉病形式。本文介绍了一例23岁患有急性间歇性卟啉病的男性病例,该患者因不明原因的腹痛前来急诊。此外,他还出现了自发性血胸(胸腔内积聚了两升血液),这是该疾病的一种不寻常表现。文中讨论了急性间歇性卟啉病最相关的方面,以及其流行病学、诊断、临床表现和治疗。还描述了卟啉病诊断中的复杂性和诊断要求。